case record

BACKGROUND AND OBJECTIVE: Apparent mineralocorticoid excess (AME) syndrome is an ultra-rare autosomal-recessive tubulopathy, caused by mutations in HSD11B2, leading to excessive activation of the kidney mineralocorticoid receptor, and characterized by early-onset low-renin hypertension, hypokalemia, and risk of chronic kidney disease (CKD). To date, most reports included few patients, and none described patients from Israel. We aimed to describe AME patients from Israel and to review the relevant literature...

As the world emerges from the COVID-19 pandemic, there is an urgent need to understand patient factors that may be used to predict the occurrence of severe cases and patient mortality. Approximately 20% of SARS-CoV-2 infections lead to acute respiratory distress syndrome caused by the harmful actions of inflammatory mediators. Patients with severe COVID-19 are often afflicted with neurologic symptoms, and individuals with pre-existing neurodegenerative disease have an increased risk of severe COVID-19. Although collectively, these observations point to a bidirectional relationship between severe COVID-19 and neurologic disorders, little is known about the underlying mechanisms...

OBJECTIVE: To describe the background, methodology, and results of the congressionally mandated Department of Veterans Affairs (VA) Traumatic Brain Injury (TBI) Veterans Health Registry. SETTING: Veterans Health Administration (VHA) and Veterans Benefit Administration (VBA). PARTICIPANTS: A total of 441 639 Veterans of post-9/11 conflicts who exhibited symptoms associated with TBI and sought care or benefits from the VA between September 2001 and September 2021...

OBJECTIVES: This study: (i) quantified the typical noise levels in an Irish neonatal intensive care unit (NICU) and compared the values to recommendations by the American Academy of Paediatrics (AAP) and the European Standards for Care for Newborn Health (EFCNI) and to occupational exposure limit value and exposure action values; and (ii) qualified the perception of noise levels and the sources of noise across the various stakeholders within a typical NICU. METHODS: A noise survey was conducted in an Irish NICU...

Langerhans cell histiocytosis (LCH) of the stomach is rare. Moreover, it is usually found in pediatric patients with systemic diseases and may be associated with a poor prognosis. Solitary gastric LCH in adults is extremely rare and is often misdiagnosed or missed. The aim of our study was to review cases of gastric LCH and explore the characteristics of the disease further. A retrospective study of all patients admitted with solitary gastric LCH was conducted between 2013 and 2023. Clinical manifestations, endoscopic and pathological features, immunophenotypes, and molecular changes were collected from medical records...

PURPOSE: A German multicentre study BLOOMY was the first to use machine learning approach to develop mortality prediction scores for bloodstream infection (BSI) patients, but the scores have not been assessed in other cohorts. Our aim was to assess how the BLOOMY 14-day and 6-month scores estimate mortality in our cohort of 497 cases with BSI. METHODS: Clinical data, laboratory data, and patient outcome were gathered retrospectively from patient records. The scores were calculated as presented in the BLOOMY study with the exception in the day of the evaluation...

Tyrosine kinase inhibitors (TKI) directed against MET have been recently approved to treat advanced non-small cell lung cancer (NSCLC) harbouring activating MET mutations. This success is the consequence of a long characterization of MET mutations in cancers, which we propose to outline in this review. MET, a receptor tyrosine kinase (RTK), displays in a broad panel of cancers many deregulations liable to promote tumour progression. The first MET mutation was discovered in 1997, in hereditary papillary renal cancer (HPRC), providing the first direct link between MET mutations and cancer development...

BACKGROUND: World Health Organization proposed 7 warning signs to identify the risk of severe dengue in 2009. This study aimed to evaluate the value of these warning signs in detecting severe dengue in children. MATERIAL AND METHODS: A cross-sectional study was conducted utilizing data of children with clinical dengue infection obtained from medical records between January 2009 and December 2018 in Jakarta. Children with confirmed dengue were analyzed and stratified into 3 age groups: infants less than 1 year old, children 1-14 years and adolescents 15-18 years of age...

OBJECTIVE: The neck region is a common site for solitary cystic neck mass (SCNM) of various etiologies, including congenital, inflammatory, and neoplastic. In adults, the primary focus is excluding malignancy. The objective of this study was to retrospectively analyze the accuracy of available diagnostic technologies for the differentiation of benign and malignant SCNM in adult patients. The study aimed to develop new clinical practice guidelines for evaluating and managing SCNM. METHODS: The primary predictive variables were the diagnostic utilities of fine-needle aspiration cytology (FNAC), ultrasound (U/S), multislice computed tomography, and magnetic resonance imaging...

BACKGROUND: Pemphigus diseases are a subgroup of autoimmune bullous diseases characterized by autoantibodies against desmogleins and occasionally desmocollins. Desmocollin 3 is the main desmocollin isoform that contributes to cell adhesion in the epidermis. OBJECTIVE: To evaluate the presence and level of anti-desmocollin 3 antibodies in pemphigus diseases, and to investigate whether their presence is associated with a specific type, presentation, or clinical pattern...

Medical photography has multiple, important roles. The education of medical practitioners, documentation of disease, response to treatment, research, publication, intraoperative recording and trauma documentation all rely on medical photography. Additionally, there are important medicolegal implications pertaining to medical photography across many medical disciplines. Other than specific image use to document cases, there remains a paucity of urological literature regarding the use of medical photography in Urology...

OBJECTIVE: To investigate the association of a novel post-match muscle pain map, named Muscle Pain Code (MPC), with the risk of subsequent time-loss muscle injury in a cohort of professional football (soccer) players. METHODS: The MPC classifies pain in four codes: code 0, ' no pain ;' code 1, ' generalized muscle pain ;' code 2, ' diffused site muscle pain ;' and code 3, ' specific site muscle pain .' Over four consecutive seasons, MPC was collected on the second post-match day and players were followed for occurrence of time-loss muscle injury over the next five days...

INTRODUCTION: The population of the Republic of Korea often experiences heat-related illnesses during summer that are exacerbated by significant variations. With rising temperatures attributed to global warming and other environmental changes within the military, combined with the military medical services' mission to uphold combat capabilities and promote health, it has become crucial to accurately understand the status of heat-related illnesses and integrate more comprehensive and systematic preventive measures...

Prader-Willi syndrome (PWS) is a rare genetic disorder characterized by hypothalamic dysfunction, hypotonia, cognitive deficits, and hyperphagia, primarily resulting from genetic abnormalities on chromosome 15. Among its varied manifestations, musculoskeletal issues, notably scoliosis, pose important challenges in management. This study aims to investigate differences in postural-motor development and spinal range of movement between preadolescents and adolescents with PWS, with and without scoliosis, while also exploring the potential impact of scoliosis on caregiving burden, an aspect yet to be thoroughly explored in existing literature...

Four weeks before competition in the 2023 Marathon des Sables, a 6-stage, ~250 km running event in the Sahara Desert, we examined the effects of a 7-day intake of New Zealand blackcurrant extract (210 mg anthocyanins per day) on 1 h treadmill running-induced physiological and metabolic responses in the heat (~34 °C, relative humidity: ~30%) in non-acclimatized amateur female and male athletes (age: 23, 38 yrs, BMI: 24.2, 28.4 kg·m-2 , body fat%: 29.2, 18.8%, V˙O2max : 50.1, 52.1 mL·kg-1 ·min-1 )...

Since December 2019, few issues have garnered as much global attention as severe acute respiratory syndrome coronavirus 2 (SARS-CoV-19). The imposed lockdowns in 2020/21, which led to the closure of all gyms, barred people from participating in their favourite sports activities. This study explores athletes' self-evaluations of their performance levels upon return to training facilities post-reopening. Data were collected in May 2021, after the end of the second lockdown, using a national online questionnaire...

The Connecticut Newborn Screening (NBS) Network, in partnership with the Connecticut Department of Public Health, strategically utilized the Epic electronic health record (EHR) system to establish registries for tracking long-term follow-up (LTFU) of NBS patients. After launching the LTFU registry in 2019, the Network obtained funding from the Health Resources and Services Administration to address the slow adoption by specialty care teams. An LTFU model was implemented in the three highest-volume specialty care teams at Connecticut Children's, involving an early childhood cohort diagnosed with an NBS-identified disorder since the formation of the Network in March 2019...

BACKGROUND: The objective of our study is to describe the clinical presentation, management, and outcome of a large cohort with nontuberculous mycobacteria (NTM) hand infection. METHODS: We reviewed the medical records of all adults (≥18 years) managed at the Mayo Clinic (Rochester, MN) for NTM hand infection between 1998 and 2018. RESULTS: Our cohort included 81 patients. The median age was 61.3 (interquartile range 51.7, 69.6) years; 39...

The aim of this study was to assess the effect of creep-feeding solid starter diet, liquid milk replacer, and a liquid mixture of starter diet and milk replacer to suckling pigs on their growth and medication usage up to target slaughter weight (approximately 120 kg). Ninety-one sows and their litters were randomly assigned to one of four post-farrowing treatments at day 107 of gestation; (1) no creep feed provided to weaning at day 28 of age (CONTROL; n  = 20), (2) dry pelleted starter diet provided as creep feed from day 10 of age to weaning (DPS; n  = 25), (3) liquid milk replacer provided as creep feed from day 3 of age to weaning (LMR; n  = 23), and (4) liquid milk replacer provided from days 3 to 6 of age followed by a mixture of liquid milk replacer with an increasing proportion of liquid starter diet to weaning provided as creep feed (LMR + S; n  = 23)...

BACKGROUND: No standardized criteria for surgical resection of parasagittal sinus meningiomas (PSM) have been established, and different surgical strategies have been proposed. The aim of the present study was to investigate the efficacy and safety of a "radical" surgical strategy in the treatment of PSM. METHODS: The clinical histories, radiological findings, pathologic features, and surgical records of 53 patients with PSM admitted by the same surgical team using the "radical" surgical strategy were retrospectively analyzed between 2018 and 2023...